Variant report

Variant	nsv1024697
Chromosome Location	chr7:119377777-119426170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:119413236..119417031-chr7:119417738..119421768,6	K562	blood:
2	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:
3	chr7:119413236..119417031-chr7:119417738..119421768,6	K562	blood:
4	chr7:119420029..119422229-chr7:119424729..119426648,2	K562	blood:
5	chr7:119346390..119349043-chr7:119407382..119409874,2	K562	blood:
6	chr7:119420199..119422229-chr7:119425148..119427831,2	K562	blood:
7	chr7:119383539..119386290-chr7:119392991..119394503,2	K562	blood:
8	chr7:119379398..119381523-chr7:119383284..119384885,2	K562	blood:
9	chr7:119383218..119386091-chr7:119386979..119388711,2	K562	blood:
10	chr7:119422555..119424148-chr7:119427385..119429257,2	K562	blood:
11	chr7:119420199..119422229-chr7:119425148..119427831,2	K562	blood:
12	chr7:119370722..119372961-chr7:119382422..119384559,2	K562	blood:
13	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
14	chr7:119410172..119412912-chr7:119413971..119417842,3	K562	blood:
15	chr7:119379398..119381523-chr7:119383284..119384885,2	K562	blood:
16	chr7:119422555..119424212-chr7:119427757..119430145,2	K562	blood:
17	chr7:119410529..119413456-chr7:119422041..119425141,3	K562	blood:
18	chr7:119408202..119409750-chr7:119409933..119412842,2	K562	blood:
19	chr7:119410529..119413456-chr7:119422041..119425141,3	K562	blood:
20	chr7:119397490..119400025-chr7:119421872..119424720,2	MCF-7	breast:
21	chr7:119378597..119381783-chr7:119382170..119385913,4	K562	blood:
22	chr7:119402295..119404288-chr7:119404943..119407340,2	K562	blood:
23	chr7:119414314..119416658-chr7:119545781..119548127,2	K562	blood:
24	chr7:119402295..119404288-chr7:119404943..119407340,2	K562	blood:
25	chr7:119383539..119386290-chr7:119392991..119394503,2	K562	blood:
26	chr7:119420029..119422229-chr7:119424729..119426648,2	K562	blood:
27	chr7:119408202..119409750-chr7:119409933..119412842,2	K562	blood:
28	chr7:119364721..119367176-chr7:119381458..119383230,2	K562	blood:
29	chr7:119397490..119400025-chr7:119421872..119424720,2	MCF-7	breast:
30	chr7:119410172..119412912-chr7:119413971..119417842,3	K562	blood:
31	chr7:119374698..119376654-chr7:119378712..119381116,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN12-4	chr7:119390869-119392229	XLOC_006580
2	lnc-TSPAN12-4	chr7:119422338-119422411	XLOC_006580

No data

Variant related genes	Relation type
ENSG00000225546	chromatin interactions
HOXC8	miRNA target sites
PDE12	miRNA target sites

Extended variants
information (count: 1637 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1637 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536921059	chr7:119377829-119377830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75479321	chr7:119377863-119377864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559840152	chr7:119377872-119377873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35433543	chr7:119377873-119377874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374625787	chr7:119378012-119378013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75050032	chr7:119378052-119378053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572458601	chr7:119378063-119378064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11973192	chr7:119378201-119378202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs113704996	chr7:119378247-119378248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575188268	chr7:119378291-119378292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553749542	chr7:119378305-119378306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544000201	chr7:119378389-119378390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192852735	chr7:119378416-119378417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574585501	chr7:119378468-119378469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540325053	chr7:119378560-119378561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17142284	chr7:119378567-119378568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532517535	chr7:119378596-119378597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546255847	chr7:119378719-119378720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552597505	chr7:119378725-119378726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572831346	chr7:119378726-119378727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571136169	chr7:119378729-119378730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149887061	chr7:119378734-119378735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369166265	chr7:119378735-119378736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201213998	chr7:119378736-119378737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144341672	chr7:119378749-119378750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374259283	chr7:119378750-119378751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545102950	chr7:119378770-119378771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565308389	chr7:119378775-119378776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568518008	chr7:119378784-119378785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10238098	chr7:119378815-119378816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527889485	chr7:119378840-119378841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148757113	chr7:119378872-119378873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17279126	chr7:119378886-119378887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs142400575	chr7:119378889-119378890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544876972	chr7:119378890-119378891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184827470	chr7:119378932-119378933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561553970	chr7:119378977-119378978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568802841	chr7:119379023-119379024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79689282	chr7:119379025-119379026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554852699	chr7:119379080-119379081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147966768	chr7:119379111-119379112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553962110	chr7:119379115-119379116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577444253	chr7:119379145-119379146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141836523	chr7:119379176-119379177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562908553	chr7:119379199-119379200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190067648	chr7:119379202-119379203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542108235	chr7:119379206-119379207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562425984	chr7:119379292-119379293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527847105	chr7:119379356-119379357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77654300	chr7:119379416-119379417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119364800-119416000	Weak transcription	K562	blood
2	chr7:119382600-119384200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:119382800-119383400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:119383200-119384000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:119388000-119388600	Enhancers	Fetal Brain Female	brain
6	chr7:119388000-119389200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:119388200-119390200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:119388400-119388800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:119388400-119388800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:119388600-119389000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:119388600-119389600	Enhancers	Fetal Heart	heart
12	chr7:119388600-119389600	Enhancers	Fetal Lung	lung
13	chr7:119388800-119389400	Enhancers	Brain Germinal Matrix	brain
14	chr7:119388800-119393400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:119388800-119394600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:119389200-119393400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:119390200-119393600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:119393400-119393600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:119393400-119393600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:119393400-119396800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:119393400-119396800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:119393400-119397000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:119393600-119394800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:119393600-119395000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:119393600-119395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:119394000-119395400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:119394600-119395000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:119394600-119395600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:119394800-119395200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr7:119395000-119396000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:119395000-119396000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:119395200-119396400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:119395400-119395800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:119395600-119397000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:119395800-119396400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:119395800-119396800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:119396000-119396400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:119396000-119397200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:119396400-119397000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:119396800-119400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:119397000-119397200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:119400400-119400800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr7:119401600-119402600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:119401800-119402600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:119411400-119411600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:119411600-119414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:119414000-119414200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:119416000-119416400	Strong transcription	K562	blood
49	chr7:119416400-119427400	Weak transcription	K562	blood

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